Full data view for gene GAPVD1

Information The variants shown are described using the NM_015635.2 transcript reference sequence.

197 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-31G>A r.(=) p.(=) g.128061170G>A Copied from the Exome Variant Server GAPVD1_000001 8/13006 0/8600 8/4406 - - - - - - -
?/? c.-6T>C r.(=) p.(=) g.128061195T>C Copied from the Exome Variant Server GAPVD1_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.54A>G r.(=) p.(=) g.128061254A>G Copied from the Exome Variant Server GAPVD1_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.128G>A r.(?) p.(Arg43His) g.128061328G>A Copied from the Exome Variant Server GAPVD1_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.178A>T r.(?) p.(Ile60Leu) g.128061378A>T Copied from the Exome Variant Server GAPVD1_000005 1/13006 0/8600 1/4406 - - - - - - -
?/? c.185+11G>T r.(=) p.(=) g.128061396G>T Copied from the Exome Variant Server GAPVD1_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.185+13T>C r.(=) p.(=) g.128061398T>C Copied from the Exome Variant Server GAPVD1_000007 8/13006 0/8600 8/4406 - - - - - - -
?/? c.185+42A>G r.(=) p.(=) g.128061427A>G Copied from the Exome Variant Server GAPVD1_000008 2/13006 0/8600 2/4406 - - - - - - -
?/? c.251A>G r.(?) p.(Asp84Gly) g.128064327A>G Copied from the Exome Variant Server GAPVD1_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.286T>C r.(?) p.(Tyr96His) g.128064362T>C Copied from the Exome Variant Server GAPVD1_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.300G>A r.(=) p.(=) g.128064376G>A Copied from the Exome Variant Server GAPVD1_000011 5/13006 0/8600 5/4406 - - - - - - -
?/? c.308T>C r.(?) p.(Leu103Ser) g.128064384T>C Copied from the Exome Variant Server GAPVD1_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.322C>T r.(?) p.(Arg108Cys) g.128064398C>T Copied from the Exome Variant Server GAPVD1_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.386T>C r.(?) p.(Ile129Thr) g.128064462T>C Copied from the Exome Variant Server GAPVD1_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.392C>G r.(?) p.(Thr131Arg) g.128064468C>G Copied from the Exome Variant Server GAPVD1_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.421A>G r.(?) p.(Ile141Val) g.128064497A>G Copied from the Exome Variant Server GAPVD1_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.461G>T r.(?) p.(Arg154Leu) g.128064537G>T Copied from the Exome Variant Server GAPVD1_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.509T>G r.(?) p.(Leu170Arg) g.128064585T>G Copied from the Exome Variant Server GAPVD1_000018 2/13006 0/8600 2/4406 - - - - - - -
?/? c.534C>T r.(=) p.(=) g.128064610C>T Copied from the Exome Variant Server GAPVD1_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.597T>G r.(=) p.(=) g.128064673T>G Copied from the Exome Variant Server GAPVD1_000020 18/13006 11/8600 7/4406 - - - - - - -
?/? c.696A>G r.(=) p.(=) g.128064772A>G Copied from the Exome Variant Server GAPVD1_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.720A>G r.(=) p.(=) g.128064796A>G Copied from the Exome Variant Server GAPVD1_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.809A>G r.(?) p.(Lys270Arg) g.128064885A>G Copied from the Exome Variant Server GAPVD1_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.850G>A r.(?) p.(Val284Met) g.128064926G>A Copied from the Exome Variant Server GAPVD1_000024 48/13006 44/8600 4/4406 - - - - - - -
?/? c.879T>C r.(=) p.(=) g.128064955T>C Copied from the Exome Variant Server GAPVD1_000025 11/13006 0/8600 11/4406 - - - - - - -
?/? c.981A>G r.(?) p.(Ile327Met) g.128065057A>G Copied from the Exome Variant Server GAPVD1_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.987C>T r.(=) p.(=) g.128065063C>T Copied from the Exome Variant Server GAPVD1_000027 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1021C>T r.(=) p.(=) g.128065097C>T Copied from the Exome Variant Server GAPVD1_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1029+6C>T r.(=) p.(=) g.128065111C>T Copied from the Exome Variant Server GAPVD1_000029 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1030-58C>T r.(=) p.(=) g.128067284C>T Copied from the Exome Variant Server GAPVD1_000030 1/4566 1/3182 0/1384 - - - - - - -
?/? c.1030-46T>C r.(=) p.(=) g.128067296T>C Copied from the Exome Variant Server GAPVD1_000031 418/13006 21/8600 397/4406 - - - - - - -
?/? c.1030-21T>C r.(=) p.(=) g.128067321T>C Copied from the Exome Variant Server GAPVD1_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1030-19del r.(=) p.(=) g.128067323del Copied from the Exome Variant Server GAPVD1_000033 87/12518 64/8254 23/4264 - - - - - - -
?/? c.1030-7G>T r.(=) p.(=) g.128067335G>T Copied from the Exome Variant Server GAPVD1_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1030-3C>T r.spl? p.? g.128067339C>T Copied from the Exome Variant Server GAPVD1_000035 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1065C>T r.(=) p.(=) g.128067377C>T Copied from the Exome Variant Server GAPVD1_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1107G>A r.(=) p.(=) g.128067419G>A Copied from the Exome Variant Server GAPVD1_000037 729/13006 24/8600 705/4406 - - - - - - -
?/? c.1116+14T>C r.(=) p.(=) g.128067442T>C Copied from the Exome Variant Server GAPVD1_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1128C>A r.(=) p.(=) g.128069703C>A Copied from the Exome Variant Server GAPVD1_000039 692/13006 630/8600 62/4406 - - - - - - -
?/? c.1129G>A r.(?) p.(Ala377Thr) g.128069704G>A Copied from the Exome Variant Server GAPVD1_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1143T>C r.(=) p.(=) g.128069718T>C Copied from the Exome Variant Server GAPVD1_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1148T>C r.(?) p.(Ile383Thr) g.128069723T>C Copied from the Exome Variant Server GAPVD1_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1149T>C r.(=) p.(=) g.128069724T>C Copied from the Exome Variant Server GAPVD1_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1234A>C r.(?) p.(Ser412Arg) g.128069809A>C Copied from the Exome Variant Server GAPVD1_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1251+7G>A r.(=) p.(=) g.128069833G>A Copied from the Exome Variant Server GAPVD1_000045 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1251+28T>A r.(=) p.(=) g.128069854T>A Copied from the Exome Variant Server GAPVD1_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1251+32G>A r.(=) p.(=) g.128069858G>A Copied from the Exome Variant Server GAPVD1_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1251+50C>T r.(=) p.(=) g.128069876C>T Copied from the Exome Variant Server GAPVD1_000048 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1251+51G>A r.(=) p.(=) g.128069877G>A Copied from the Exome Variant Server GAPVD1_000049 115/13006 12/8600 103/4406 - - - - - - -
?/? c.1252-21A>G r.(=) p.(=) g.128069949A>G Copied from the Exome Variant Server GAPVD1_000050 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1252-15C>T r.(=) p.(=) g.128069955C>T Copied from the Exome Variant Server GAPVD1_000051 318/13006 286/8600 32/4406 - - - - - - -
?/? c.1287A>T r.(?) p.(Gln429His) g.128070005A>T Copied from the Exome Variant Server GAPVD1_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1294G>A r.(?) p.(Glu432Lys) g.128070012G>A Copied from the Exome Variant Server GAPVD1_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1324G>A r.(?) p.(Ala442Thr) g.128070042G>A Copied from the Exome Variant Server GAPVD1_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1371G>A r.(?) p.(Met457Ile) g.128070089G>A Copied from the Exome Variant Server GAPVD1_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1382A>G r.(?) p.(Asn461Ser) g.128070100A>G Copied from the Exome Variant Server GAPVD1_000056 56/13006 1/8600 55/4406 - - - - - - -
?/? c.1418A>G r.(?) p.(Asn473Ser) g.128070136A>G Copied from the Exome Variant Server GAPVD1_000057 9/13006 0/8600 9/4406 - - - - - - -
?/? c.1428T>C r.(=) p.(=) g.128070146T>C Copied from the Exome Variant Server GAPVD1_000058 3/13004 0/8600 3/4404 - - - - - - -
?/? c.1442-51_1442-49del r.(=) p.(=) g.128074680_128074682del Copied from the Exome Variant Server GAPVD1_000059 1/11974 1/7894 0/4080 - - - - - - -
?/? c.1458C>T r.(=) p.(=) g.128074747C>T Copied from the Exome Variant Server GAPVD1_000060 13/13006 0/8600 13/4406 - - - - - - -
?/? c.1460G>A r.(?) p.(Arg487His) g.128074749G>A Copied from the Exome Variant Server GAPVD1_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1469T>C r.(?) p.(Met490Thr) g.128074758T>C Copied from the Exome Variant Server GAPVD1_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1498G>A r.(?) p.(Gly500Arg) g.128074787G>A Copied from the Exome Variant Server GAPVD1_000063 7/13006 7/8600 0/4406 - - - - - - -
?/? c.1518T>C N/A N/A g.128074807T>C Copied from the Exome Variant Server GAPVD1_000064 12472/13006 8111/8600 4361/4406 - - - - - - -
?/? c.1573C>G r.(?) p.(Leu525Val) g.128074862C>G Copied from the Exome Variant Server GAPVD1_000065 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1602+3A>T r.spl? p.? g.128074894A>T Copied from the Exome Variant Server GAPVD1_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1603-47C>A r.(=) p.(=) g.128083665C>A Copied from the Exome Variant Server GAPVD1_000067 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1622C>T r.(?) p.(Ser541Leu) g.128083731C>T Copied from the Exome Variant Server GAPVD1_000068 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1623G>A r.(=) p.(=) g.128083732G>A Copied from the Exome Variant Server GAPVD1_000069 3/13006 1/8600 2/4406 - - - - - - -
?/? c.1693T>G r.(?) p.(Phe565Val) g.128083802T>G Copied from the Exome Variant Server GAPVD1_000070 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1732+11A>G r.(=) p.(=) g.128083852A>G Copied from the Exome Variant Server GAPVD1_000071 11/13006 0/8600 11/4406 - - - - - - -
?/? c.1733-44T>C r.(=) p.(=) g.128086033T>C Copied from the Exome Variant Server GAPVD1_000072 18/13006 11/8600 7/4406 - - - - - - -
?/? c.1733-41C>G r.(=) p.(=) g.128086036C>G Copied from the Exome Variant Server GAPVD1_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1733-34_1733-32del r.(=) p.(=) g.128086043_128086045del Copied from the Exome Variant Server GAPVD1_000074 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1733-15T>C r.(=) p.(=) g.128086062T>C Copied from the Exome Variant Server GAPVD1_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1745G>A r.(?) p.(Arg582His) g.128086089G>A Copied from the Exome Variant Server GAPVD1_000076 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1757T>C r.(?) p.(Val586Ala) g.128086101T>C Copied from the Exome Variant Server GAPVD1_000077 39/13006 35/8600 4/4406 - - - - - - -
?/? c.1858+10A>G r.(=) p.(=) g.128086212A>G Copied from the Exome Variant Server GAPVD1_000078 56/13006 50/8600 6/4406 - - - - - - -
?/? c.1858+51T>G r.(=) p.(=) g.128086253T>G Copied from the Exome Variant Server GAPVD1_000079 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1859-32A>C r.(=) p.(=) g.128088663A>C Copied from the Exome Variant Server GAPVD1_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1859-11G>T r.(=) p.(=) g.128088684G>T Copied from the Exome Variant Server GAPVD1_000081 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1938C>T r.(=) p.(=) g.128088774C>T Copied from the Exome Variant Server GAPVD1_000082 16/13006 14/8600 2/4406 - - - - - - -
?/? c.2003T>C r.(?) p.(Ile668Thr) g.128088839T>C Copied from the Exome Variant Server GAPVD1_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2033-50A>G r.(=) p.(=) g.128092307A>G Copied from the Exome Variant Server GAPVD1_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2033-24C>T r.(=) p.(=) g.128092333C>T Copied from the Exome Variant Server GAPVD1_000085 3/13006 2/8600 1/4406 - - - - - - -
?/? c.2051T>G r.(?) p.(Met684Arg) g.128092375T>G Copied from the Exome Variant Server GAPVD1_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2100C>T r.(=) p.(=) g.128092424C>T Copied from the Exome Variant Server GAPVD1_000087 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2116A>G r.(?) p.(Thr706Ala) g.128092440A>G Copied from the Exome Variant Server GAPVD1_000088 2/13006 2/8600 0/4406 - - - - - - -
?/? c.2135G>C r.(?) p.(Ser712Thr) g.128092459G>C Copied from the Exome Variant Server GAPVD1_000089 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2173+12G>A r.(=) p.(=) g.128092509G>A Copied from the Exome Variant Server GAPVD1_000090 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2174-52G>A r.(=) p.(=) g.128094153G>A Copied from the Exome Variant Server GAPVD1_000091 1/5734 1/3982 0/1752 - - - - - - -
?/? c.2201G>A r.(?) p.(Arg734His) g.128094232G>A Copied from the Exome Variant Server GAPVD1_000093 5/13006 5/8600 0/4406 - - - - - - -
?/? c.2302G>A r.(?) p.(Val768Met) g.128094333G>A Copied from the Exome Variant Server GAPVD1_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2306C>T r.(?) p.(Ser769Phe) g.128094337C>T Copied from the Exome Variant Server GAPVD1_000094 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2308+40G>A r.(=) p.(=) g.128094379G>A Copied from the Exome Variant Server GAPVD1_000095 8/13006 8/8600 0/4406 - - - - - - -
?/? c.2309-39_2309-37del r.(=) p.(=) g.128094750_128094752del Copied from the Exome Variant Server GAPVD1_000096 15/12496 4/8250 11/4246 - - - - - - -
?/? c.2425C>A r.(?) p.(His809Asn) g.128094905C>A Copied from the Exome Variant Server GAPVD1_000097 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2428+10G>A r.(=) p.(=) g.128094918G>A Copied from the Exome Variant Server GAPVD1_000098 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2428+50G>T r.(=) p.(=) g.128094958G>T Copied from the Exome Variant Server GAPVD1_000099 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2429-17T>C r.(=) p.(=) g.128097434T>C Copied from the Exome Variant Server GAPVD1_000100 1/13006 1/8600 0/4406 - - - - - - -
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